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Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes

26 Mar 2020

Abstract excerpt

Newborn screening (NBS) programmes utilise information on a variety of clinical variables such as gestational age, sex, and birth weight to reduce false-positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen-negative singleton babies (n = 100 000) were analysed, which included blood metabolic...

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PMID: 32216101
DOI: 10.1002/jimd.12236

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